Canonical Allele Identifier: CA5668000

Gene: SUFU

Linked Data

• ClinVar Variation Id: 453960
• ClinVar RCV Id: RCV000545540 ; RCV000561960 ; RCV000763644 ; RCV001294222 ; RCV003139745 ; RCV003470694
• dbSNP Id: rs778125780
• ExAC: 10:104389836 A / G
• gnomAD v2: 10-104389836-A-G
• gnomAD v3: 10-102630079-A-G
• gnomAD v4: 10-102630079-A-G
• MyVariant Identifiers: chr10:g.104389836A>G (hg19) ; chr10:g.102630079A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102630079A>G , CM000672.2:g.102630079A>G	GRCh38
NC_000010.10:g.104389836A>G , CM000672.1:g.104389836A>G	GRCh37
NC_000010.9:g.104379826A>G	NCBI36
NG_021338.1:g.131118A>G , LRG_521:g.131118A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369902.8:c.1379A>G MANE Select	ENSP00000358918.4:p.Lys460Arg
ENST00000369902.7:c.1379A>G	ENSP00000358918.3:p.Lys460Arg
NM_016169.3:c.1379A>G , LRG_521t1:c.1379A>G	NP_057253.2:p.Lys460Arg
XM_011539858.1:c.1508A>G	XP_011538160.1:p.Lys503Arg
XM_011539859.1:c.1508A>G	XP_011538161.1:p.Lys503Arg
XM_011539860.1:c.1505A>G	XP_011538162.1:p.Lys502Arg
XM_011539861.1:c.1382A>G	XP_011538163.1:p.Lys461Arg
XM_011539862.1:c.1430A>G	XP_011538164.1:p.Lys477Arg
XM_011539863.1:c.1334A>G	XP_011538165.1:p.Lys445Arg
XM_011539858.3:c.1508A>G	XP_011538160.1:p.Lys503Arg
XM_011539860.3:c.1505A>G	XP_011538162.1:p.Lys502Arg
XM_011539861.3:c.1382A>G	XP_011538163.1:p.Lys461Arg
XM_011539863.3:c.1334A>G	XP_011538165.1:p.Lys445Arg
XM_017016323.1:c.1430A>G	XP_016871812.1:p.Lys477Arg
NM_016169.4:c.1379A>G MANE Select	NP_057253.2:p.Lys460Arg